New Step by Step Map For thr777
New Step by Step Map For thr777
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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the impact of sequence variations on RNA splicing suggest this variant might develop or reinforce a splice web-site. In summary, the available proof is currently inadequate to ascertain the purpose of this variant in condition. As a result, it has been categorised as a Variant of Unsure Significance.
This sequence adjust impacts codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in men and women influenced with GAA-associated ailments.
There is no functional proof in ClinVar for this variation. When you've got created useful facts for this variation, you should look at distributing that info to ClinVar.
The worldwide insignificant allele frequency calculated by the one thousand Genomes Task. The slight allele at this place is indicated in parentheses and may be distinctive within the allele represented by this VCV file.
The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals observed using this type of variant.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI depending on knowledge from submitters. Examine our procedures for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please consider publishing that information and facts to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, with a connection to view the listing of variants.
These citations are recognized by LitVar utilizing the rs range, so they may involve citations for more than one variant at this spot. Please overview the LitVar results meticulously for your variant of curiosity. File past updated May possibly 19, 2024
Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
Stars depict the aggregate review standing, or the level of evaluate supporting the mixture germline classification for this VCV document.
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Stars signify the evaluation status, or the extent of overview supporting the thr777 submitted (SCV) file. This worth is calculated by NCBI depending on info in the submitter.